Literature DB >> 9198060

Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease.

F Scolari1, B Valzorio, O Carli, V Vizzardi, E Costantino, L Grazioli, M P Bondioni, S Savoldi, R Maiorca.   

Abstract

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Mesh：

Year:  1997        PMID： 9198060     DOI： 10.1093/ndt/12.6.1247

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  4 in total

1.  Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Authors:  Takeshi Morisawa; Mariko Yagi; Agus Surono; Naoki Yokoyama; Makoto Ohmori; Hiroto Terashi; Masafumi Matsuo
Journal:  Hum Genet       Date:  2004-06-02       Impact factor: 4.132

2.  Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Authors:  C Thauvin-Robinet; M Cossée; V Cormier-Daire; L Van Maldergem; A Toutain; Y Alembik; E Bieth; V Layet; P Parent; A David; A Goldenberg; G Mortier; D Héron; P Sagot; A M Bouvier; F Huet; V Cusin; A Donzel; D Devys; J R Teyssier; L Faivre
Journal:  J Med Genet       Date:  2006-01       Impact factor: 6.318

3.  Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Authors:  Izak J Bisschoff; Christine Zeschnigk; Denise Horn; Brigitte Wellek; Angelika Rieß; Maja Wessels; Patrick Willems; Peter Jensen; Andreas Busche; Jens Bekkebraten; Maya Chopra; Hanne Dahlgaard Hove; Christina Evers; Ketil Heimdal; Ann-Sophie Kaiser; Erdmut Kunstmann; Kristina Lagerstedt Robinson; Maja Linné; Patricia Martin; James McGrath; Winnie Pradel; Katrina E Prescott; Bernd Roesler; Gorazd Rudolf; Ulrike Siebers-Renelt; Nataliya Tyshchenko; Dagmar Wieczorek; Gerhard Wolff; William B Dobyns; Deborah J Morris-Rosendahl
Journal:  Hum Mutat       Date:  2012-10-17       Impact factor: 4.878

4.  Identification of the gene for oral-facial-digital type I syndrome.

Authors:  M I Ferrante; G Giorgio; S A Feather; A Bulfone; V Wright; M Ghiani; A Selicorni; L Gammaro; F Scolari; A S Woolf; O Sylvie; L Bernard; S Malcolm; R Winter; A Ballabio; B Franco
Journal:  Am J Hum Genet       Date:  2001-02-13       Impact factor: 11.025
  4 in total

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